Objective To develop a risk prediction model for postoperative malnutrition in children with congenital heart disease(CHD)and to verify it both internally and externally.Methods By a convenience sampling method,300 CHD children treated at a tertiary hospital in Shandong Province from January 2018 to December 2021 were selected as a modeling group,and 129 children from January 2022 to June 2023 were selected as a validation group.Data on patient demographics,disease-specific variables,therapeutic interventions,and nursing care parameters were collected.Single factor and logistic regression were employed to construct a risk prediction model for postoperative malnutrition in CHD children,and the nomogram was drawn and its prediction effect was evaluated.Results The incidence of postoperative malnutrition among CHD children was 33.10％.Logistic regression analysis revealed that risk factors for malnutrition in children included birth weight＜2.5 kg,preoperative malnutrition,negative fluid balance 1 week after surgery,and long duration of cardiopulmonary bypass(P＜0.05).The area under the receiver operating characteristic curve of the modeling group was 0.933;the sensitivity was 83.30％;the specificity was 90.90％.The Hosmer-Lemeshow test showed that x2=7.765(P=0.457).The AUC of the validation group was 0.918;the sensitivity was 87.20％;the specificity was 90.00％.The Hosmer-Lemeshow test showed that x2=4.947(P=0.763).Calibration curves for both groups indicated good calibration of the model,and the clinical decision curves demonstrated its practical clinical utility.Conclusion The risk prediction model developed in this study exhibits good predictive ability,which can provide a reference for medical staff to early identify high-risk infants for postoperative malnutrition following CHD surgery and to formulate targeted intervention measures.

AIM:To investigate the role of Epac/Rap1 signaling pathway in hypoxia-reoxygenation injury in H9c2 cells,and to explore the mechanism of vitexin regulating the Epac/Rap1 signaling path-way to protect cardiomyocytes from hypoxia-reoxy-genation injury.METHODS:The oxygen glucose de-privation(OGD)model was established using H9c2 cardiomyocytes to simulate hypoxia-reoxygenation injury.The experiment was randomly divided into 7 groups:Normal control group,OGD group,OGD+VT group,OGD+8-CPT+VT group,OGD+ESI-09+VT group,OGD+8-CPT+VT+H-89 group,OGD+ESI-09+VT+H-89 group.Cell viability was measured by MTT.LDH was used to detect cell damage.The ex-pression levels of Epac1 and its downstream Rap1-GTP,CaMK Ⅱ and ERK proteins in H9c2 cells were detected by Western blot.The expression of Epac1 and Rap1 proteins in H9c2 cardiomyocytes was de-tected by immunofluorescence.The mRNA expres-sion of Rap1 and Epac1 in H9c2 cardiomyocytes was quantitatively determined by real-time PCR.Calcium ion fluorescence probe(Fluo-3 AM)was used to detect intracellular[Ca2+]i content.The in-teraction between Epac1 and Rap1 in cells were de-tected by Co-IP.RESULTS:Compared with the nor-mal control group,after hypoxia for 5 h and reoxy-genation for 1 h,the release of LDH,cell viability,Epac1 protein expression,Rap1 activation and RAP1-GTP up-regulation of H9c2 cardiomyocytes in OGD group were significantly increased.VT(10μmol/L)significantly inhibited the activation of Epac1 in H9c2 cardiomyocytes after OGD,and then inhibited the expression of downstream Rap1 ac-tive form Rap1-GTP.In addition,the expression of CaMK Ⅱ protein was down-regulated,but ERK phosphorylation was increased,and intracellular calcium overload was alleviated.Epac1 agonist 8-CPT could counteract the effect of VT,and Epac1 in-hibitor(ESI-09)combined with VT had synergistic effect.PKA inhibitor(Hmur89)had no effect on the expression of Epac1 and its downstream related proteins in cardiomyocytes.CONCLUSION:Hypoxia-reoxygenation can mediate the activation of Epac1/Rap1 signal pathway in cardiomyocytes.VT can pro-tect cardiomyocytes from hypoxia-reoxygenation in-jury by inhibiting Epac1/Rap1 signal pathway,down-regulating CaMK Ⅱ protein expression and promoting ERK phosphorylation.

OBJECTIVE: To explore the clinical characteristics and genetic basis of two brothers featuring X-linked alpha thalassemia mental retardation (ATR-X) syndrome. METHODS: An infant who had presented at the Qilu Children's Hospital in 2020 for unstable upright head and inability to roll over and his family were selected as the study subjects. The clinical features of the child and one of his brothers were summarized, and their genomic DNA was subjected to targeted capture and next generation sequencing (NGS). RESULTS: The brothers had presented with mental retardation and facial dysmorphisms. NGS revealed that they had both harbored a hemizygous c.5275C>A variant of the ATRX gene located on the X chromosome, which was inherited from their mother. CONCLUSION The siblings were diagnosed with ATR-X syndrome. The discovery of the c.5275C>A variant has enriched the mutational spectrum of the ATRX gene.
Humans ; Infant ; Male ; alpha-Thalassemia/diagnosis* ; Ataxia Telangiectasia Mutated Proteins/genetics* ; East Asian People ; Intellectual Disability/genetics* ; Mental Retardation, X-Linked/diagnosis* ; Pedigree ; X-linked Nuclear Protein/genetics*

Objective : To investigate the role of Epac1 / CaMK Ⅱ signaling pathway in myocardial ischemia reper- fusion injury (MIRI) in mice，and to investigate the protective effect of vitexin ( VT) on acute MIRI． Methods: C57 / BL mice were randomly divided into 5 groups : Sham surgery group ( Sham) ，ischemia reperfusion group ( I / R) ，and ischemia reperfusion + vitexin group ( function 3，6，12 mg / kg groups) ．Ligation of the left anterior descending coronary artery (LAD coronary artery) in mice resulted in ischemia of part of the heart tissue for 30min and reperfusion of the blood for 120min．Mouse myocardial ischemia reperfusion injury ( MIRI) model was established．In the sham operation group，only the LAD was not ligated．Serum LDH levels of mice were detected．Hema- toxylin-eosin (H＆E) staining was performed on the left ventricular myocardium of mice to observe the histopatho- logical changes．The expression level of Epac1 in myocardial tissue was observed by immunohistochemistry．The protein expressions of Epac1，Rap1，CaMK Ⅱ and ERK / p-ERK were determined by Western Blot. Results : Compared with Sham group，serum LDH level of mice in I / R group was significantly increased，protein expressions of Epac1， Rap1 and CaMK Ⅱ in myocardial tissue were significantly up-regulated，and ERK1 /2 phosphorylation level was decreased．Compared with I / R group，vitexin (3，6，12 mg / kg) pretreatment group decreased serum LDH level，inhib- ited Epac1，Rap1 and CaMK Ⅱ protein expression in mouse myocardial tissue，and promoted ERK1 /2 phosphoryla- tion(P＜0. 05 or P＜0. 01) ．The histopathological results showed that the myocardial fibers in the I / R group were disordered and broken，with increased gaps and obvious inflammatory cell infiltration．In the vitexin treatment group，the myocardial fibers were arranged more neatly and inflammatory cells were infiltrated less. Conclusion Vitexin may regulate Epac1 / CaMK Ⅱ signaling pathway，down-regulate CaMK Ⅱ protein expression，increase ERK phosphorylation，and effectively reduce MIRI.

Objective:To systematically analyze and integrate the psychological experience of heart failure patients using mobile medical applications (App) for self-management.Methods:Qualitative research on the self-management experience of heart failure patients using mobile medical App was retrieved through computer on PubMed, Web of Science, Embase, Cochrane Library, CINAHL, PsycINFO, Australian Joanna Briggs Evidence-Based Health Care Center Database, China National Knowledge Infrastructure, WanFang Data, VIP, and China Biomedical Literature Database. The search period was from the establishment of the database to December 30, 2022. The quality of literature was evaluated in accordance with the quality evaluation criteria for qualitative research of the Joanna Briggs Institute Evidence-Based Health Care Center (2016) . The results were integrated using the aggregative integration method.Results:A total of 14 articles were included, 32 research results were extracted, and 7 new categories were summarized. Finally, three integrated results were obtained (positive experience of heart failure patients using mobile medical App, risks and challenges of heart failure patients using mobile medical App, and preferences and expectations of heart failure patients towards mobile medical App) .Conclusions:The mobile medical App provides new ideas for self-management of heart failure patients, and its effectiveness is recognized by most heart failure patients, who perceive significant benefits. Future research should enrich the functionality and participation forms of the App based on the personalized needs of patients and their families, explore remote health management intervention models at home, and promote the promotion and application of mobile medical App.

OBJECTIVE: To carry out clinical and genetic analysis for an infant manifesting perianal lesions, diarrhea and multiple intestinal perforations. METHODS: Genomic DNA of the infant was extracted and subjected to targeted capture exome sequencing. Candidate variants were verified by Sanger sequencing of his family members. RESULTS: The patient was found to harbor c.301C>T and c.188+1G>A compound heterozygous variants of the IL10RA gene, which has suggested the diagnosis of IL10RA-related very early-onset inflammatory bowel disease (VEOIBD). CONCLUSION The patient was diagnosed with IL10RA-related VEOIBD. The newly discovered c.188+1G>A variant has enriched the spectrum of IL10RA gene variations.
Genetic Testing ; Humans ; Infant ; Inflammatory Bowel Diseases/pathology* ; Mutation ; Exome Sequencing

OBJECTIVE: To analyze the clinical and genetic characteristics of a boy featuring unexplained developmental delay, malnutrition and distinct facial appearance. METHODS: Physical examination was carried out for the child. Peripheral blood samples were collected from the child and his parents for the extraction of genomic DNA and trio-whole exome sequencing. Candidate variants were verified by Sanger sequencing. RESULTS: The patient had facial dysmorphism including nasal alae aplasia, scalp defect and teeth deformities, in addition with recurrent diarrhea due to pancreatic exocrine insufficiency. DNA sequencing revealed that he has harbored compound heterozygous variants of the UBR1 gene, namely c.3167C>G (p.S1056X) and c.1911+14C>G, which were inherited from his father and mother, respectively. Database search has suggested the c.3167C>G to be a novel nonsense variant and c.1911+14C>G a known splicing variant. Based on the guidelines of the American College of Medical Genetics and Genomics, the two variants were predicted to be pathogenic and likely pathogenic, respectively. CONCLUSION The child was diagnosed with Johanson-Blizzard syndrome due to the compound heterozygous variants of the UBR1 gene. Above finding has enriched the mutational spectrum of the UBR1 gene and provided a basis for genetic counseling for this family.
Child ; Humans ; Male ; Ectodermal Dysplasia/genetics* ; Pancreatic Diseases/genetics* ; Ubiquitin-Protein Ligases/genetics*

OBJECTIVE: To explore the genetic etiology of a small-for-date infant with gastrointestinal bleeding, developmental delay and thrombocytopenia (Zhu-Tokita-Takenouchi-Kim syndrome). METHODS: Clinical and laboratory examinations were carried out for the patient. Next-generation sequencing (NGS) was used to detect potential variant associated with the disease. Candidate variant was verified by Sanger sequencing of the child and her parents. RESULTS: NGS revealed that the child has carried a heterozygous c.5751_5754del variant of the SON gene, which resulted in a frameshift p.V1918Efs*87. The same variant was detected in neither parent. CONCLUSION The heterozygous variant of SON gene probably underlay the ZTTK syndrome in this child. Above finding has enriched the mutational spectrum of the SON gene and provides a basis for genetic counseling and clinical decision-making.
Child ; Family ; Female ; Genetic Testing ; Heterozygote ; Humans ; Infant ; Intellectual Disability/genetics* ; Mutation

Sudden cardiac death (SCD) is one of the most common causes of death for patients with cardiovascular diseases. General practitioners are the providers of primary medical and health service, it its worthwhile to discuss their role positioning in the prevention and control system of SCD. In this study, SWOT analysis was used to explore the strength, weakness, opportunity and threats of the involvement of general practitioners in SCD prevention and control system, to clarify the roles of general practitioners and to provide suggestions for the improvement and development of SCD prevention and control system in China.

Objective:To investigate the effects of different lipid-lowering regimens on blood lipids, endothelial function and safety in patients with unstable angina.Methods:Patients who admitted to Henan Provincial People's Hospital for unstable angina from September 2018 to May 2019 were randomly (random number) divided into the conventional treatment group, intensive statin group and intensive lipid-lowering group. Follow-up was performed at 1, 3, and 6 months after treatment according to the predetermined lipid-lowering regimen. Assessments included lipid profile, liver function, muscle enzymes, hypersensitive C-reactive protein (hs-CRP), endothelial function (reactive hyperemia index, RHI), ischemic events, myalgia, and discontinuation. The differences of the follow-up indicators among the three groups were analyzed.Results:A total of 375 patients were enrolled and randomly divided into three groups, 125 patients in each group. There were no significant differences in demographic data and medication among the three groups. At the 1st month, the low density lipoprotein cholesterin (LDL-C) compliance rate of the intensive statin group was significantly higher than those in the conventional treatment group ( χ2=3.939, P=0.047) and the intensive lipid-lowering group ( χ2=4.63, P=0.031). At the 3rd month, the reductions of LDL-C in the intensive statin group and the intensive lipid-lowering group were significantly better than that in the conventional treatment group( P<0.01). At the 6th month, the reduction rate of LDL-C in the intensive lipid-lowering group was higher than that in the intensive statin group ( q=4.332, P<0.01). At the 1st month, the improvement of hs-CRP and RHI in the intensive statin group was significantly better than that in the conventional treatment group( q=4.133, P<0.05). From the 3rd month of treatment, the incidence of cardiovascular events in the intensive statin group and the intensive lipid-lowering group showed a tendency to decrease compared with the conventional treatment group, but no statistically significant difference was found. At the 6th months of treatment, the withdrawal rates were significantly higher in the intensive statin group and the intensive lipid-lowering group than that in the conventional treatment group (χ 2=4.488, P=0.03 and χ2=5.039, P=0.02). There were no significant differences in the ratio of liver enzyme and muscle enzyme elevation and the incidence of myalgia among the three groups (all P>0.05). Conclusions:Intensive statin therapy can make LDL-C reach the standard in patients with unstable angina pectoris as soon as possible, significantly improve inflammation indicators and endothelial function, and has good safety.